RPE65

Summary

Gene Symbol: RPE65
Description: RPE65, retinoid isomerohydrolase
Alias: BCO3, LCA2, RP20, mRPE65, p63, rd12, sRPE65, retinoid isomerohydrolase, BCO family, member 3, RBP-binding membrane protein, all-trans-retinyl-palmitate hydrolase, meso-zeaxanthin isomerase, retinal pigment epithelium specific protein 65, retinal pigment epithelium-specific 65 kDa protein, retinal pigment epithelium-specific protein 65kDa, retinitis pigmentosa 20 (autosomal recessive), retinol isomerase
Species: human
Products:     RPE65

Top Publications

  1. Marlhens F, Griffoin J, Bareil C, Arnaud B, Claustres M, Hamel C. Autosomal recessive retinal dystrophy associated with two novel mutations in the RPE65 gene. Eur J Hum Genet. 1998;6:527-31 pubmed
    ..Recent studies have shown that mutations in RPE65, a gene that codes for a retinal pigment epithelium (RPE)-specific protein thought to be involved in the 11-cis-..
  2. Al Khayer K, Hagstrom S, Pauer G, Zegarra H, Sears J, Traboulsi E. Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations. Am J Ophthalmol. 2004;137:375-7 pubmed
    ..on a North American patient with Leber congenital amaurosis (LCA) and novel compound heterozygous mutations in the RPE65 gene. Case report...
  3. Nikolaeva O, Takahashi Y, Moiseyev G, Ma J. Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65. Biochem Biophys Res Commun. 2010;391:1757-61 pubmed publisher
    b>RPE65 is the isomerohydrolase essential for regeneration of 11-cis retinal, the chromophore of visual pigments...
  4. Bowne S, Humphries M, Sullivan L, Kenna P, Tam L, Kiang A, et al. A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Eur J Hum Genet. 2011;19:1074-81 pubmed publisher
    ..8 Mb region on 1p31. Of 50 known genes in the region, 11 candidates, including RPE65 and PDE4B, were sequenced using di-deoxy capillary electrophoresis...
  5. Redmond T, Poliakov E, Yu S, Tsai J, Lu Z, Gentleman S. Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle. Proc Natl Acad Sci U S A. 2005;102:13658-63 pubmed
    b>RPE65 is essential for isomerization of vitamin A to the visual chromophore...
  6. Jacobson S, Cideciyan A, Ratnakaram R, Heon E, Schwartz S, Roman A, et al. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012;130:9-24 pubmed publisher
    To determine the safety and efficacy of subretinal gene therapy in the RPE65 form of Leber congenital amaurosis using recombinant adeno-associated virus 2 (rAAV2) carrying the RPE65 gene...
  7. Takahashi Y, Chen Y, Moiseyev G, Ma J. Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. J Biol Chem. 2006;281:21820-6 pubmed
    b>RPE65 is the isomerohydrolase in the retinoid visual cycle essential for recycling of 11-cis retinal, the chromophore for visual pigments in both rod and cone photoreceptors...
  8. el Matri L, Ambresin A, Schorderet D, Kawasaki A, Seeliger M, Wenzel A, et al. Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene. Graefes Arch Clin Exp Ophthalmol. 2006;244:1104-12 pubmed
    ..A genome-wide linkage analysis was initiated. Mutation analysis of the RPE65 gene within the linked interval was performed by bi-directional sequencing...
  9. Philp A, Jin M, Li S, Schindler E, Iannaccone A, Lam B, et al. Predicting the pathogenicity of RPE65 mutations. Hum Mutat. 2009;30:1183-8 pubmed publisher
    ..Eleven missense variations in the RPE65 gene were evaluated in patients with Leber congenital amaurosis (LCA) using the EPP algorithm...

More Information

Publications103 found, 100 shown here

  1. Hamel C, Tsilou E, Pfeffer B, Hooks J, Detrick B, Redmond T. Molecular cloning and expression of RPE65, a novel retinal pigment epithelium-specific microsomal protein that is post-transcriptionally regulated in vitro. J Biol Chem. 1993;268:15751-7 pubmed
    ..microsomal membranes of the vertebrate retinal pigment epithelium (RPE) contain an RPE-specific 65-kDa protein, RPE65, which bears the determinant recognized by the strictly tissue-specific monoclonal antibody RPE9, and which is ..
  2. Takahashi Y, Moiseyev G, Ablonczy Z, Chen Y, Crouch R, Ma J. Identification of a novel palmitylation site essential for membrane association and isomerohydrolase activity of RPE65. J Biol Chem. 2009;284:3211-8 pubmed publisher
    b>RPE65 is a membrane-associated protein abundantly expressed in the retinal pigment epithelium, which converts all-trans-retinyl ester to 11-cis-retinol, a key step in the retinoid visual cycle...
  3. Lotery A, Namperumalsamy P, Jacobson S, Weleber R, Fishman G, Musarella M, et al. Mutation analysis of 3 genes in patients with Leber congenital amaurosis. Arch Ophthalmol. 2000;118:538-43 pubmed
    To assess the frequency of mutations in the CRX, GUCY2D, and RPE65 genes in patients with Leber congenital amaurosis (LCA)...
  4. Moiseyev G, Chen Y, Takahashi Y, Wu B, Ma J. RPE65 is the isomerohydrolase in the retinoid visual cycle. Proc Natl Acad Sci U S A. 2005;102:12413-8 pubmed
    b>RPE65 is an abundant protein in the retinal pigment epithelium. Mutations in RPE65 are associated with inherited retinal dystrophies...
  5. Mamatha G, Srilekha S, Meenakshi S, Kumaramanickavel G. Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. Ophthalmic Genet. 2008;29:73-8 pubmed publisher
    To determine the frequency of pathogenic mutations in the gene encoding RPE65 in patients from India with Leber congenital amaurosis (LCA)...
  6. Redmond T, Yu S, Lee E, Bok D, Hamasaki D, Chen N, et al. Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle. Nat Genet. 1998;20:344-51 pubmed
    Mutation of RPE65 can cause severe blindness from birth or early childhood, and RPE65 protein is associated with retinal pigment epithelium (RPE) vitamin A metabolism...
  7. Jin M, Li S, Moghrabi W, Sun H, Travis G. Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium. Cell. 2005;122:449-59 pubmed
    ..We discovered that the isomerase is a previously characterized protein called Rpe65. We confirmed our identification of the isomerase by demonstrating catalytic activity in mammalian and insect ..
  8. Felius J, Thompson D, Khan N, Bingham E, Jamison J, Kemp J, et al. Clinical course and visual function in a family with mutations in the RPE65 gene. Arch Ophthalmol. 2002;120:55-61 pubmed
    To evaluate the phenotype of affected and carrier members of a family with mutations in RPE65 (a retinal pigment epithelium gene)...
  9. Weleber R, Michaelides M, Trzupek K, Stover N, Stone E. The phenotype of Severe Early Childhood Onset Retinal Dystrophy (SECORD) from mutation of RPE65 and differentiation from Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2011;52:292-302 pubmed publisher
    ..and electrophysiological features of Severe Early Childhood Onset Retinal Dystrophy (SECORD) caused by mutation of RPE65. Ophthalmological examination, color fundus photography, visual field testing, detailed electrophysiological ..
  10. Nicoletti A, Wong D, Kawase K, Gibson L, Yang Feng T, Richards J, et al. Molecular characterization of the human gene encoding an abundant 61 kDa protein specific to the retinal pigment epithelium. Hum Mol Genet. 1995;4:641-9 pubmed
    The retinal pigment epithelium (RPE) of the eye expresses an abundant 61 kDa protein (RPE65), that is developmentally regulated and tissue-specific...
  11. Marlhens F, Bareil C, Griffoin J, Zrenner E, Amalric P, Eliaou C, et al. Mutations in RPE65 cause Leber's congenital amaurosis. Nat Genet. 1997;17:139-41 pubmed
  12. Takahashi Y, Moiseyev G, Chen Y, Ma J. Identification of conserved histidines and glutamic acid as key residues for isomerohydrolase activity of RPE65, an enzyme of the visual cycle in the retinal pigment epithelium. FEBS Lett. 2005;579:5414-8 pubmed
    We have recently reported that RPE65 from the retinal pigment epithelium is the isomerohydrolase, a critical enzyme in the visual cycle for regeneration of 11-cis retinal, the chromophore for visual pigments...
  13. Gu S, Thompson D, Srikumari C, Lorenz B, Finckh U, Nicoletti A, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet. 1997;17:194-7 pubmed
    ..The RPE expresses a tissue-specific and evolutionarily highly conserved 61 kD protein (RPE65) present at high levels in vivo...
  14. Hauswirth W, Aleman T, Kaushal S, Cideciyan A, Schwartz S, Wang L, et al. Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Hum Gene Ther. 2008;19:979-90 pubmed publisher
    ..One molecular form is caused by mutations in the RPE65 (retinal pigment epithelium-specific 65-kDa) gene...
  15. Kiser P, Golczak M, Lodowski D, Chance M, Palczewski K. Crystal structure of native RPE65, the retinoid isomerase of the visual cycle. Proc Natl Acad Sci U S A. 2009;106:17325-30 pubmed publisher
    ..A key enzyme in this pathway is the microsomal membrane protein RPE65. This enzyme catalyzes the conversion of all-trans-retinyl esters to 11-cis-retinol in the retinal pigment ..
  16. Morimura H, Fishman G, Grover S, Fulton A, Berson E, Dryja T. Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or leber congenital amaurosis. Proc Natl Acad Sci U S A. 1998;95:3088-93 pubmed
    b>RPE65 is a protein of unknown function expressed specifically by the retinal pigment epithelium...
  17. Joseph B, Srinivasan A, Soumittra N, Vidhya A, Shetty N, Uthra S, et al. RPE65 gene: multiplex PCR and mutation screening in patients from India with retinal degenerative diseases. J Genet. 2002;81:19-23 pubmed
    We used multiplex PCR follwed by sequencing to screen for mutations in the 14 exons of the RPE65 gene in early-childhood-onset autosomal recessive retinitis pigmentosa (arRP) and Leber's congenital amaurosis (LCA) patients...
  18. Simonelli F, Ziviello C, Testa F, Rossi S, Fazzi E, Bianchi P, et al. Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients. Invest Ophthalmol Vis Sci. 2007;48:4284-90 pubmed
    ..Mutations occurred more frequently in the RPE65 (8.4%), CRB1 (7.4%), and GUCY2D (5.2%) genes. Mutations in CEP290 were found in only 4.2% of the patients analyzed...
  19. Setiawan M, Tan X, Goh T, Hin Fai Yam G, Mehta J. Inhibiting glycogen synthase kinase-3 and transforming growth factor-? signaling to promote epithelial transition of human adipose mesenchymal stem cells. Biochem Biophys Res Commun. 2017;490:1381-1388 pubmed publisher
    ..of epithelial genes (E-cadherin, Epithelial Cell Adhesion Molecule EpCAM, Zonula Occludens-1 ZO-1, occludin, deltaN p63 ?Np63, Transcription Factor 4 TCF4 and Twist Family bHLH Transcription Factor TWIST), compared to untreated ADSCs...
  20. Liu B, Zhang J, Yi R, Zhou X, Long X, Pan Y, et al. Preventive Effect of Lactobacillus fermentum CQPC08 on 4-Nitroquineline-1-Oxide Induced Tongue Cancer in C57BL/6 Mice. Foods. 2019;8: pubmed publisher
    ..GST-π), and Bcl-2-associated X protein (Bax), and downregulated the mRNA expression of p53, p63, p73, phosphatase and tensin homolog (PTEN), B-cell lymphoma 2 (Bcl-2) and B-cell lymphoma-extra large (Bcl-xL) in ..
  21. Brown C, Abi Hachem R, Pendse A, Madden J, Francis H. Low-Grade Papillary Schneiderian Carcinoma of the Sinonasal Cavity and Temporal Bone. Ann Otol Rhinol Laryngol. 2018;127:974-977 pubmed publisher
    ..Immunohistochemistry showed that cells stained positive for p63 and dermCK and negative for synaptophysin...
  22. Stefanowicz D, Lee J, Lee K, Shaheen F, Koo H, Booth S, et al. Elevated H3K18 acetylation in airway epithelial cells of asthmatic subjects. Respir Res. 2015;16:95 pubmed publisher
    ..of genes such as epidermal growth factor receptor (EGFR), the ΔN isoform of the transcription factor p63 (ΔNp63), and signal transducer and activator of transcription 6 (STAT6), integral to differentiation, ..
  23. Mohapatra S, Chakraborty T, Shimizu S, Urasaki S, Matsubara T, Nagahama Y, et al. Starvation beneficially influences the liver physiology and nutrient metabolism in Edwardsiella tarda infected red sea bream (Pagrus major). Comp Biochem Physiol A Mol Integr Physiol. 2015;189:1-10 pubmed publisher
    ..05) at later stages. Two-color immunohistochemistry and subsequent cell counting showed significant increase in P63-positive cells at 0dai and 5dai but later reduced slightly at 10dai...
  24. Song D, Song J, Wang C, Li Y, Dunaief J. Berberine protects against light-induced photoreceptor degeneration in the mouse retina. Exp Eye Res. 2016;145:1-9 pubmed publisher
    ..Consistent with OCT results, the mRNA levels of Rho in the NSR, and Rpe65 and Mct3 in the RPE, were significantly higher in mice treated with BBR...
  25. Kang M, Lee E, Kim Y, Kim D, Oh H, Kim S, et al. Chrysin Ameliorates Malfunction of Retinoid Visual Cycle through Blocking Activation of AGE-RAGE-ER Stress in Glucose-Stimulated Retinal Pigment Epithelial Cells and Diabetic Eyes. Nutrients. 2018;10: pubmed publisher
    ..The oral gavage of chrysin augmented the levels of the visual cycle enzymes of RPE65, lecithin retinol acyltransferase (LRAT), retinol dehydrogenase 5 (RDH5), and rhodopsin diminished in db/db mouse ..
  26. Russo C, Osterburg C, Sirico A, Antonini D, Ambrosio R, Würz J, et al. Protein aggregation of the p63 transcription factor underlies severe skin fragility in AEC syndrome. Proc Natl Acad Sci U S A. 2018;115:E906-E915 pubmed publisher
    The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation...
  27. Li D, Chen Z, Song X, de Paiva C, Kim H, Pflugfelder S. Partial enrichment of a population of human limbal epithelial cells with putative stem cell properties based on collagen type IV adhesiveness. Exp Eye Res. 2005;80:581-90 pubmed
    ..evaluated for certain stem cell properties: (a) BrdU-label retention, (b) expression of basal cell (integrin beta1, p63, ABCG2) and differentiation (involucrin, keratin 12) markers, and (c) colony forming efficiency (CFE) and growth ..
  28. Mou H, Vinarsky V, Tata P, Brazauskas K, Choi S, Crooke A, et al. Dual SMAD Signaling Inhibition Enables Long-Term Expansion of Diverse Epithelial Basal Cells. Cell Stem Cell. 2016;19:217-231 pubmed publisher
    ..pathway signaling is strongly activated in luminal and suprabasal cells of several epithelia, but suppressed in p63+ basal cells...
  29. Ye P, Gao Y, Wei T, Yu G, Peng X. Absence of myoepithelial cells correlates with invasion and metastasis of Carcinoma ex pleomorphic adenoma. Int J Oral Maxillofac Surg. 2017;46:958-964 pubmed publisher
    ..Immunohistochemistry for MEC markers (?-SMA, CALPONIN, and p63) was performed, and the number and distribution of MECs was quantified...
  30. Duteil D, Tourrette Y, Eberlin A, Willmann D, Patel D, Friedrichs N, et al. The histone acetyltransferase inhibitor Nir regulates epidermis development. Development. 2018;145: pubmed publisher
    ..Furthermore, Nir binds to and controls the expression of p63 and limits H3K18ac at the p63 promoter...
  31. Redmond T, Poliakov E, Kuo S, Chander P, Gentleman S. RPE65, visual cycle retinol isomerase, is not inherently 11-cis-specific: support for a carbocation mechanism of retinol isomerization. J Biol Chem. 2010;285:1919-27 pubmed publisher
    ..Does the isomerase enzyme RPE65 operate via nucleophilic addition at C(11) of the all-trans substrate, or via a carbocation mechanism? To ..
  32. Amelio I, Melino G, Candi E. p63 Adjusts Sugar Taste of Epidermal Layers. J Invest Dermatol. 2017;137:1204-1206 pubmed publisher
    b>p63 is a master regulator of epidermal biology, sustaining stemness and renewal capacity of the proliferating keratinocyte compartment...
  33. Liu J, Bu J. A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis. Chin Med J (Engl). 2017;130:2709-2712 pubmed publisher
    Leber congenital amaurosis (LCA) is a visual disease which is caused by RPE65 mutations and results in retinal degeneration and severe vision loss in early infancy...
  34. Booij J, Florijn R, ten Brink J, Loves W, Meire F, van Schooneveld M, et al. Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. J Med Genet. 2005;42:e67 pubmed
    To identify mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa...
  35. Yoshiba S, Saotome T, Mikogami T, Shirota T. Metastasis of Mammary Gland Malignant Phyllodes Tumor to the Mandibular Region: A Case Report and Review of the Literature. J Oral Maxillofac Surg. 2017;75:440.e1-440.e9 pubmed publisher
    ..Biopsy examination showed growth of giant cells and roughly circular cells showing positivity for S-100, p63, and vimentin on immunohistochemical staining...
  36. Zhao W, Wang H, Han X, Ma J, Zhou Y, Chen Z, et al. ΔNp63α attenuates tumor aggressiveness by suppressing miR-205/ZEB1-mediated epithelial-mesenchymal transition in cervical squamous cell carcinoma. Tumour Biol. 2016;37:10621-32 pubmed publisher
    ..this study, we show that the expression levels of EMT markers, β-catenin and Vimentin, are associated with the p63 isoform ΔNp63α in SCC by using immunohistochemistry staining and analysis...
  37. Coimbra E, DA Conceição Gomes Leitão M, Júnior M, DE Oliveira T, DA Costa Silva Neto J, de Freitas A. Expression Profile of MicroRNA-203 and its ?Np63 Target in Cervical Carcinogenesis: Prospects for Cervical Cancer Screening. Anticancer Res. 2016;36:3939-46 pubmed
    ..As the role of p63 and miR-203 in cervical carcinogenesis is not yet well-understood, we have, thus, decided to evaluate the changes ..
  38. Kasinathan J, Namperumalsamy V, Veerappan M, Chidambaranathan G. A novel method for a high enrichment of human corneal epithelial stem cells for genomic analysis. Microsc Res Tech. 2016;79:1165-1172 pubmed publisher
    ..The CESCs were quantified on the basis of two parameters-high expression of p63/ABCG2 and nucleus to cytoplasmic (N/C) ratio ≥0.7...
  39. Wang X, Jiang G, Zhang X, Chu L, Cao Y. Pulmonary Papillary Adenoma: Report of Two Cases. J Coll Physicians Surg Pak. 2017;27:582-583 pubmed publisher
    ..Immunohistochemistry (IHC) staining showed that the lining cells were diffusely positive for TTF-1, CK, p63, CK7, and Napsin A. The Ki-67 proliferation index was approximately 2%...
  40. Alshenawy H, Saied E. Do HOXB13 and P63 have a role in differentiating poorly differentiated prostatic carcinoma from urothelial high-grade carcinoma?. APMIS. 2015;123:772-8 pubmed publisher
    ..This study aims to evaluate traditional (PSA and HMWCK) and relatively novel (P63 and HOXB13) markers in distinguishing them; and to evaluate their role in the diagnosis of challenging cases...
  41. Koss M, Falabella P, Stefanini F, Pfister M, Thomas B, Kashani A, et al. Subretinal implantation of a monolayer of human embryonic stem cell-derived retinal pigment epithelium: a feasibility and safety study in Yucatán minipigs. Graefes Arch Clin Exp Ophthalmol. 2016;254:1553-65 pubmed publisher
    ..hESC-RPE cells were identified using immunohistochemistry staining for TRA-1-85 (a human marker) and RPE65 (an RPE marker)...
  42. Baghai F, Yazdani F, Etebarian A, Garajei A, Skalova A. Clinicopathologic and molecular characterization of mammary analogue secretory carcinoma of salivary gland origin. Pathol Res Pract. 2017;213:1112-1118 pubmed publisher
    ..All 10 MASCs were positive for mammaglobin, S-100 protein and SOX10, while staining for DOG1 and p63 protein were mostly absent...
  43. Bonilha V, Rayborn M, Li Y, Grossman G, Berson E, Hollyfield J. Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase. Invest Ophthalmol Vis Sci. 2011;52:8381-92 pubmed publisher
    ..and retinal pigment epithelium (RPE) in postmortem donor eyes of a 56-year-old patient with a homozygous missense RPE65 mutation (Ala132Thr) and correlate the pathology with the patient's visual function last measured at age 51...
  44. Masili Oku S, Almeida B, Bacchi C, Filassi J, Baracat E, Carvalho F. Lymphocyte-predominant triple-negative breast carcinomas in premenopausal patients: Lower expression of basal immunohistochemical markers. Breast. 2017;31:34-39 pubmed publisher
    ..cytokeratin 5/6, cytokeratin 14, epidermal growth factor receptor (EGFR), vimentin, p16, claudin-3, -4, and -7, p63, and aldehyde dehydrogenase isoform 1 (ALDH1)...
  45. Nemajerova A, Amelio I, Gebel J, Dötsch V, Melino G, Moll U. Non-oncogenic roles of TAp73: from multiciliogenesis to metabolism. Cell Death Differ. 2018;25:144-153 pubmed publisher
    The p53 family of transcription factors (p53, p63 and p73) covers a wide range of functions critical for development, homeostasis and health of mammals across their lifespan...
  46. de Amorim Ribeiro I, da Costa C, da Silva V, Côrrea L, Boaventura G, Chagas M. Flaxseed reduces epithelial proliferation but does not affect basal cells in induced benign prostatic hyperplasia in rats. Eur J Nutr. 2017;56:1201-1210 pubmed publisher
    ..Tissue sections were stained with HE, picrosirius red and immunostained for nuclear antigen p63. Histomorphometric analysis evaluated the epithelial thickness, epithelial area, individual luminal area, and total ..
  47. Di Franco S, Turdo A, Benfante A, Colorito M, Gaggianesi M, Apuzzo T, et al. ?Np63 drives metastasis in breast cancer cells via PI3K/CD44v6 axis. Oncotarget. 2016;7:54157-54173 pubmed publisher
    b>P63 is a transcription factor belonging to the family of p53, essential for the development and differentiation of epithelia...
  48. Park G, Chung Y, Gong J, Jin D, Kim D. GSK-3?-mediated fatty acid synthesis enhances epithelial to mesenchymal transition of TLR4-activated colorectal cancer cells through regulation of TAp63. Int J Oncol. 2016;49:2163-2172 pubmed publisher
    ..of CD74, CD44 and macrophage inhibitory factor (MIF), but decreased expression of transcriptionally active p63 (TAp63)...
  49. Wang Q, Zou Y, Nowotschin S, Kim S, Li Q, Soh C, et al. The p53 Family Coordinates Wnt and Nodal Inputs in Mesendodermal Differentiation of Embryonic Stem Cells. Cell Stem Cell. 2017;20:70-86 pubmed publisher
    ..Knockout of all three members, p53, p63, and p73, shows that the p53 family is essential for mesendoderm specification during exit from pluripotency in ..
  50. Thompson C, DeLaForest A, Battle M. Patterning the gastrointestinal epithelium to confer regional-specific functions. Dev Biol. 2018;435:97-108 pubmed publisher
    ..mouse models, that have defined the roles of key transcription factors during epithelial morphogenesis, including p63, SOX2, SOX15, GATA4, GATA6, HNF4A, and HNF4G...
  51. Rodriguez Calleja L, Jacques C, Lamoureux F, Baud huin M, Tellez Gabriel M, Quillard T, et al. ?Np63? Silences a miRNA Program to Aberrantly Initiate a Wound-Healing Program That Promotes TGF?-Induced Metastasis. Cancer Res. 2016;76:3236-51 pubmed publisher
    ..Multiple reports have suggested that the p53 (TP53) family member p63 (TP63) plays an antimetastatic role through its minor epithelial isoform containing the N-terminal transactivation ..
  52. Chang B. Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis. Methods Mol Biol. 2016;1438:417-30 pubmed publisher
    ..Three mouse models are described, the rd3 mouse model for LCA12 and LCA1, the rd12 mouse model for LCA2, and the rd16 mouse model for LCA10.
  53. Fichter C, Przypadlo C, Buck A, Herbener N, Riedel B, Schäfer L, et al. A new model system identifies epidermal growth factor receptor-human epidermal growth factor receptor 2 (HER2) and HER2-human epidermal growth factor receptor 3 heterodimers as potent inducers of oesophageal epithelial cell invasion. J Pathol. 2017;243:481-495 pubmed publisher
    ..This was associated with partial loss of cytokeratin 7 (when HER2 homodimers were modelled) and p63 (when EGFR-HER2 heterodimers were modelled), which suggests a change or loss of squamous cell differentiation...
  54. Cino E, Soares I, Pedrote M, de Oliveira G, Silva J. Aggregation tendencies in the p53 family are modulated by backbone hydrogen bonds. Sci Rep. 2016;6:32535 pubmed publisher
    The p53 family of proteins is comprised of p53, p63 and p73. Because the p53 DNA binding domain (DBD) is naturally unstable and possesses an amyloidogenic sequence, it is prone to form amyloid fibrils, causing loss of functions...
  55. Alexiev B, Tumer Y, Yang G. Malignant tenosynovial giant cell tumor with CDKN2A/B genomic alteration: a histological, immunohistochemical, and molecular study. Hum Pathol. 2017;63:144-148 pubmed publisher
    ..The immunoprofile demonstrated clusterin+, D2-40+, CD68+, p63+, MDM2+, and p16+ tumor. The next-generation sequencing-based assay demonstrated loss of the CDKN2A/B gene...
  56. Akhavan Tavakoli M, Fard M, Khanjani S, Zare S, Edalatkhah H, Mehrabani D, et al. In vitro differentiation of menstrual blood stem cells into keratinocytes: A potential approach for management of wound healing. Biologicals. 2017;48:66-73 pubmed publisher
    ..showed that differentiated keratinocytes express epidermal/keratinocytes lineage specific markers such as K14, p63, and involucrin at both mRNA and protein levels...
  57. Patel S, Manjunatha B, Shah V, Soni N, Sutariya R. Immunohistochemical evaluation of p63 and cyclin D1 in oral squamous cell carcinoma and leukoplakia. J Korean Assoc Oral Maxillofac Surg. 2017;43:324-330 pubmed publisher
    There are only a limited number of studies on cyclin D1 and p63 expression in oral squamous cell carcinoma (OSCC) and leukoplakia...
  58. Rahman F, Bhatti M, Ali A, Duong H, Zhang Y, Yang B, et al. Homo- and heteroleptic Pt(II) complexes of ONN donor hydrazone and 4-picoline: A synthetic, structural and detailed mechanistic anticancer investigation. Eur J Med Chem. 2018;143:1039-1052 pubmed publisher
    ..analysis showed that H460 and HepG2 cells treated with C2b and C3b significantly increased the expression of p53, p63, p21, p15, Bax and decreased Bcl-2 and c-Myc levels...
  59. Kim H, Nam S, Chang B, Nahm S, Lee J. Ultrastructural Changes and Expression of PCNA and RPE65 in Sodium Iodate-Induced Acute Retinal Pigment Epithelium Degeneration Model. Neurochem Res. 2018;43:1010-1019 pubmed publisher
    ..the sequential ultrastructure and expression of proliferating cell nuclear antigen (PCNA) and retina-specific RPE65 in NaIO3-induced retinal degeneration model...
  60. Mochizuki Y, Omura K, Sakamoto K, Nakanishi S, Satoh K, Marukawa E, et al. A case of primary combined neuroendocrine carcinoma with squamous cell carcinoma in the upper gingiva. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;109:e34-9 pubmed publisher
    ..Both components showed K19 staining. Cells with squamous differentiation and K14 staining occasionally expressed p63. The patient showed no evidence of disease as of 23 months postoperatively...
  61. Szpisjak D, Horn G, Shalov S, Abes A, Van Decar L. Minute Ventilation Limitations of Two Field Transport Ventilators. Mil Med. 2017;182:e1653-e1657 pubmed publisher
    ..02 to 0.10 L/cm H2O and three different airway resistances (R) (none, Rp5, or Rp20). Tidal volume (VT) was 800 ± 25 mL...
  62. Jackson C, Reppe S, Eidet J, Eide L, Tønseth K, Bergersen L, et al. Optimization of Storage Temperature for Retention of Undifferentiated Cell Character of Cultured Human Epidermal Cell Sheets. Sci Rep. 2017;7:8206 pubmed publisher
    ..b>P63, C/EBPδ, CK10 and involucrin fluorescence combined with morphology observations supported retention of ..
  63. Wang L, Li P, Tian Y, Li Z, Lian C, Ou Q, et al. Human umbilical cord mesenchymal stem cells: subpopulations and their difference in cell biology and effects on retinal degeneration in RCS rats. Curr Mol Med. 2017;: pubmed publisher
    ..subretinal spaces of RCS rats, both subsets survived, but only hUC-MSC1 expressed RPE cell markers Bestrophin and RPE65. More importantly, hUC-MSC1 showed stronger rescue effect on the retinal function as indicated by the higher b-..
  64. Frisch S, Farris J, Pifer P. Roles of Grainyhead-like transcription factors in cancer. Oncogene. 2017;36:6067-6073 pubmed publisher
    ..established cancer-related signaling/transcription factor pathways (for example, Wnt, TGF-β, mir200, ZEB1, OVOL2, p63 and p300) and translational implications of the Grainyhead proteins in cancer are discussed in this review article.
  65. Chen T, Wu Y, Hou J, Chiu C, Chen W. The p53 gene with emphasis on its paralogues in mosquitoes. J Microbiol Immunol Infect. 2017;50:747-754 pubmed publisher
    ..Subsequently, two p53 homologues, i.e., p73 and p63, with high identity of amino acids were identified, leading to construction of the p53 family...
  66. Choi S, Kim J, Seo M, Park S, Kang T, Lee J, et al. miR-410 Inhibition Induces RPE Differentiation of Amniotic Epithelial Stem Cells via Overexpression of OTX2 and RPE65. Stem Cell Rev. 2015;11:376-86 pubmed publisher
    ..Inhibition of miR-410 induces overexpression of immature and mature RPE-specific factors, including OTX2, RPE65, Bestrophin and EMMPRIN...
  67. Dasgupta T, Nweze E, Yue H, Wang L, Jin J, Ghosh S, et al. Human papillomavirus oncogenic E6 protein regulates human β-defensin 3 (hBD3) expression via the tumor suppressor protein p53. Oncotarget. 2016;7:27430-44 pubmed publisher
    ..In addition, the p63 protein isoform ΔNp63α, but not TAp63, stimulated transactivation of the hBD3 gene and was co-expressed with hBD3 ..
  68. Fowler C, Damm D. Sialadenoma Papilliferum: Analysis of Seven New Cases and Review of the Literature. Head Neck Pathol. 2018;12:193-201 pubmed publisher
    ..Immunohistochemical reactivity with p63 and p40 indicated that the basal cell layer was comprised predominantly of neoplastic myoepithelial cells...
  69. Khoury Z, Bugshan A, Lubek J, Papadimitriou J, Basile J, Younis R. Glycogen-Rich Clear Cell Squamous Cell Carcinoma Originating in the Oral Cavity. Head Neck Pathol. 2017;11:552-560 pubmed publisher
    ..Pancytokeratin, CK5/6, and p63 were all diffusely positive. S-100, Calponin, and smooth muscle actin (SMA) were negative...
  70. Srbecka K, Michalova K, Curcikova R, Michal M, Dubova M, Svajdler M, et al. Spectrum of lesions derived from branchial arches occurring in the thyroid: from solid cell nests to tumors. Virchows Arch. 2017;471:393-400 pubmed publisher
    ..Positive reaction with antibodies against CK5/6, p63, galectin 3, and CEA, and negative reaction with antibodies against thyroglobulin, TTF-1, and calcitonin were used ..
  71. Kobayashi Y, Hayashi R, Quantock A, Nishida K. Generation of a TALEN-mediated, p63 knock-in in human induced pluripotent stem cells. Stem Cell Res. 2017;25:256-265 pubmed publisher
    The expression of p63 in surface ectodermal cells during development of the cornea, skin, oral mucosa and olfactory placodes is integral to the process of cellular self-renewal and the maintenance of the epithelial stem cell status...
  72. Qtaishat N, Pepperberg D. Preservation of retinoid influx into eye tissues of ABCR-deficient mice. Curr Eye Res. 2007;32:1073-82 pubmed
    ..hr post-injection, the inferred all-trans retinol influx in abcr-/- mice, which possess the leucine 450 variant of RPE65 protein, was 0.011 +/- 0.004 nmol (n = 3)...
  73. Tang P, Buhusi M, Ma J, Crouch R. RPE65 is present in human green/red cones and promotes photopigment regeneration in an in vitro cone cell model. J Neurosci. 2011;31:18618-26 pubmed publisher
    b>RPE65 is an abundantly expressed protein within the retinal pigment epithelium (RPE) of the eye that is required for retinoid metabolism to support vision...
  74. Kwak S, Yamakoshi Y, Simmer J, Margolis H. MMP20 Proteolysis of Native Amelogenin Regulates Mineralization In Vitro. J Dent Res. 2016;95:1511-1517 pubmed
    ..MMP20 was found to cleave P173 to primarily generate P148, along with P162, P46-148, and P63/64-148. In sharp contrast, MMP20 did not cleave P148...
  75. Pasadhika S, Fishman G, Stone E, Lindeman M, Zelkha R, Lopez I, et al. Differential macular morphology in patients with RPE65-, CEP290-, GUCY2D-, and AIPL1-related Leber congenital amaurosis. Invest Ophthalmol Vis Sci. 2010;51:2608-14 pubmed publisher
    To evaluate genotypic and macular morphologic correlations in patients with RPE65-, CEP290-, GUCY2D-, or AIPL1-related Leber congenital amaurosis (LCA) using spectral-domain optical coherence tomography (SD-OCT)...
  76. Hamel C, Jenkins N, Gilbert D, Copeland N, Redmond T. The gene for the retinal pigment epithelium-specific protein RPE65 is localized to human 1p31 and mouse 3. Genomics. 1994;20:509-12 pubmed
    The human and murine chromosomal localization for the gene for the retinal pigment epithelium-specific protein RPE65 was determined. Using interspecific backcross analysis, we mapped Rpe65 to the distal end of mouse chromosome 3...
  77. Samardzija M, Barben M, Geiger P, Grimm C. The Consequences of Hypomorphic RPE65 for Rod and Cone Photoreceptors. Adv Exp Med Biol. 2016;854:341-6 pubmed publisher
    b>RPE65 is essential for both rod- and cone-mediated vision. So far, more than 120 disease-associated mutations have been identified in the human RPE65 gene...
  78. Pyakurel A, Balmer D, Saba El Leil M, Kizilyaprak C, Daraspe J, Humbel B, et al. Loss of Extracellular Signal-Regulated Kinase 1/2 in the Retinal Pigment Epithelium Leads to RPE65 Decrease and Retinal Degeneration. Mol Cell Biol. 2017;37: pubmed publisher
    ..The loss of ERK1/2 activity resulted in a significant decrease in the level of RPE65 expression, a decrease in ocular retinoid levels concomitant with low visual function, and a rapid disorganization ..
  79. Pay S, Qi X, Willard J, Godoy J, Sankhavaram K, Horton R, et al. Improving the Infection of Bone Marrow-Derived Cells with an Integrase-Defective Lentiviral Vector. Hum Gene Ther Methods. 2017;: pubmed publisher
    ..We previously demonstrated that human RPE65 mRNA expression from an integrating lentiviral vector (ILV) induces endogenous Rpe65 and Cralbp mRNA expression in ..
  80. Simovich M, Miller B, Ezzeldin H, Kirkland B, McLeod G, Fulmer C, et al. Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis. Hum Mutat. 2001;18:164 pubmed
    ..The RPE65 gene product is required for regeneration of the visual pigment for phototransduction...
  81. Kuroda N, Ohara M, Inoue K, Mizuno K, Fujishima N, Hamaguchi N, et al. The majority of triple-negative breast cancer may correspond to basal-like carcinoma, but triple-negative breast cancer is not identical to basal-like carcinoma. Med Mol Morphol. 2009;42:128-31 pubmed publisher
    ..and 1 medullary carcinoma) were positive for more than three markers among cytokeratins 5, 14, and 17, and p63. Three tumors (2 invasive ductal carcinomas and 1 apocrine carcinoma) were completely negative for all markers...
  82. Agostini M, Melino G, Bernassola F. The p53 Family in Brain Disease. Antioxid Redox Signal. 2017;: pubmed publisher
    The p53 family of transcription factors, including p53, p63 and p73, plays key roles in both biological and pathological processes, including cancer and neural development...
  83. Dabbs D, Chivukula M, Carter G, Bhargava R. Basal phenotype of ductal carcinoma in situ: recognition and immunohistologic profile. Mod Pathol. 2006;19:1506-11 pubmed
    ..and immunostains were performed for Cytokeratins 14, 17, and 5/6, vimentin, EGFR, c-kit, smooth muscle actin and p63. All 16 cases had a high-grade invasive ductal carcinoma, Nottingham score 9/9, with geographic necrosis, good ..
  84. Tsilou E, Hamel C, Yu S, Redmond T. RPE65, the major retinal pigment epithelium microsomal membrane protein, associates with phospholipid liposomes. Arch Biochem Biophys. 1997;346:21-7 pubmed
    The retinal pigment epithelium (RPE)-specific protein RPE65 is the major protein of the RPE microsomal membrane fraction...
  85. MacLaren R. An analysis of retinal gene therapy clinical trials. Curr Opin Mol Ther. 2009;11:540-6 pubmed
    ..Understanding methods to overcome stress responses is likely to be a critical step in translating the applications of gene therapy from animal models to other human retinal diseases. ..
  86. Clark G, Crowe P, Muszynska D, O Prey D, O Neill J, Alexander S, et al. Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa. Ophthalmology. 2010;117:2169-77.e3 pubmed publisher
    ..High-throughput genotyping for RP is evolving into a clinically useful genetic diagnostic tool. The author(s) have no proprietary or commercial interest in any materials discussed in this article. ..
  87. Joshi P, Modur V, Cheng J, Robinson K, Rao K. Characterization of immortalized human mammary epithelial cell line HMEC 2.6. Tumour Biol. 2017;39:1010428317724283 pubmed publisher
    ..The cell line expressed basal epithelial markers such as cytokeratin 7, CD10, and p63 and was negative for the expression of estrogen receptor and progesterone receptor...
  88. Nikolos F, Thomas C, Bado I, Gustafsson J. ERβ Sensitizes NSCLC to Chemotherapy by Regulating DNA Damage Response. Mol Cancer Res. 2018;16:233-242 pubmed publisher
    ..The expression of p63 target genes that control G2-M checkpoint activation was altered by ERβ1 suggesting an ERβ1-p63 ..
  89. Sánchez Romero C, Carlos R, de Almeida O, Romañach M. Microcystic Calcifying Epithelial Odontogenic Tumor. Head Neck Pathol. 2018;12:598-603 pubmed publisher
    ..Tumor cells were positive for AE1/AE3, CK14, CK19, p63, CD138, and beta-catenin...
  90. Lee H, Chandan V, Lee C, Wu T. Squamoid morules in the pseudoinvasive foci of colonic polyp morphologically mimic invasive carcinoma. Hum Pathol. 2017;68:54-60 pubmed publisher
    ..Histologic review and immunostains for cytokeratin 5/6, p63, synaptophysin, and chromogranin were performed on cases with squamoid morules...
  91. Logunova V, Sokumbi O. Pure mucinous (colloid) adenocarcinoma of the conjunctiva. J Cutan Pathol. 2017;: pubmed publisher
    ..Focal areas of the tumor demonstrated peripheral staining for p63 and CK5/6 suggestive of an in situ component...
  92. Vázquez Román V, Utrilla J, Fernández Santos J, Martin Lacave I. Immunohistochemical profiling of the ultimobranchial remnants in the rat postnatal thyroid gland. J Morphol. 2017;278:1114-1124 pubmed publisher
    ..Our results demonstrated that cytokeratin 34?E12 and p63 are highly sensitive markers for the immunohistologic screening of UB-remnants, independently of their maturity or ..